ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344836
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001253596
RCV001295143
RCV001587291
RCV004538537
ClinVar Variation:
976330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Thr359Met
CA409651133
NM_172106.3:c.1076C>T